GPR101
geneOn this page
Summary
GPR101 (G protein-coupled receptor 101, HGNC:14963) is a protein-coding gene on chromosome Xq26.3, encoding Probable G-protein coupled receptor 101 (Q96P66). Orphan receptor.
The protein encoded by this gene is an orphan G protein-coupled receptor of unknown function. The encoded protein is a member of a family of proteins that contain seven transmembrane domains and transduce extracellular signals through heterotrimeric G proteins.
Source: NCBI Gene 83550 — RefSeq curated summary.
At a glance
- Gene–disease (curated): pituitary adenoma, growth hormone-secreting, 2 (Strong, GenCC) — +1 more curated relationship
- GWAS associations: 1
- Clinical variants (ClinVar): 90 total — 1 pathogenic
- Phenotypes (HPO): 107
- Druggable target: yes
- MANE Select transcript:
NM_054021
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:14963 |
| Approved symbol | GPR101 |
| Name | G protein-coupled receptor 101 |
| Location | Xq26.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000165370 |
| Ensembl biotype | protein_coding |
| OMIM | 300393 |
| Entrez | 83550 |
Gene structure
Transcript identifiers
Ensembl transcripts: 1 — 1 protein_coding
ENST00000651716
RefSeq mRNA: 1 — MANE Select: NM_054021
NM_054021
CCDS: CCDS14662
Canonical transcript exons
ENST00000651716 — 2 exons
| Exon | Start | End |
|---|---|---|
| ENSE00003841647 | 137023929 | 137031766 |
| ENSE00003849256 | 137033802 | 137033995 |
Expression profiles
Bgee: expression breadth broad, 23 present calls, max score 76.08.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.2248 / max 88.2878, expressed in 48 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 200685 | 0.2248 | 48 |
Top tissues by expression
238 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| nucleus accumbens | UBERON:0001882 | 76.08 | gold quality |
| caudate nucleus | UBERON:0001873 | 64.50 | gold quality |
| hypothalamus | UBERON:0001898 | 62.14 | gold quality |
| putamen | UBERON:0001874 | 61.95 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 53.04 | gold quality |
| cardia of stomach | UBERON:0001162 | 52.54 | gold quality |
| biceps brachii | UBERON:0001507 | 52.08 | gold quality |
| parotid gland | UBERON:0001831 | 52.00 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 50.15 | gold quality |
| quadriceps femoris | UBERON:0001377 | 50.11 | gold quality |
| vastus lateralis | UBERON:0001379 | 49.97 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 48.96 | gold quality |
| bone marrow cell | CL:0002092 | 47.95 | gold quality |
| deltoid | UBERON:0001476 | 44.43 | gold quality |
| tongue | UBERON:0001723 | 44.17 | gold quality |
| forebrain | UBERON:0001890 | 43.68 | gold quality |
| body of tongue | UBERON:0011876 | 43.41 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 43.37 | gold quality |
| brain | UBERON:0000955 | 42.87 | gold quality |
| secondary oocyte | CL:0000655 | 42.57 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 41.63 | gold quality |
| bone marrow | UBERON:0002371 | 41.52 | gold quality |
| colonic mucosa | UBERON:0000317 | 41.36 | gold quality |
| superficial temporal artery | UBERON:0001614 | 41.33 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 41.13 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 41.10 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 40.98 | gold quality |
| dorsal plus ventral thalamus | UBERON:0001897 | 40.83 | gold quality |
| subthalamic nucleus | UBERON:0001906 | 40.78 | gold quality |
| amniotic fluid | UBERON:0000173 | 40.69 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 3.12 |
Regulation
Is transcription factor: no
Literature-anchored findings (GeneRIF, showing 12)
- GPR101 is a critical requirement for GnRH-(1-5) transactivation of EGFR in Ishikawa cells. (PMID:24264576)
- X-linked acrogigantism is caused by an Xq26.3 genomic duplication and is characterized by early-onset gigantism. Also found recurrent mutation in GPR101 in some adults with acromegaly. (PMID:25470569)
- Germline GPR101 mutations are very rare in patients with sporadic pituitary adenomas of various histotypes. (PMID:26792934)
- This study did not identify GPR101 abnormalities as a frequent cause of growth hormone deficiency. (PMID:26797872)
- p.E308D variant not found in acromegaly cases (PMID:26815903)
- Study showed that X-linked acrogigantism (XLAG) can result from germline or somatic duplication of GPR101. Duplication of GPR101 alone is sufficient for the development of XLAG, implicating it as the causative gene within the Xq26.3 region. The pathological features of XLAG-associated pituitary adenomas are typical and, together with the clinical phenotype, should prompt genetic testing. (PMID:27245663)
- This study shows that different GPR101 transcripts exist and that the brain is the major site of GPR101 expression across different species, although divergent species- and temporal-specific expression patterns are evident. These findings suggest an important role for GPR101 in brain and pituitary development and likely reflect the very different growth, development and maturation patterns among species. (PMID:27282544)
- Germline or somatic microduplications of the Xq26.3 chromosomal region, invariably involving the GPR101 gene, constitute the genetic defect leading to X-Linked Acrogigantism. GPR101 encodes a class A G protein-coupled receptor that activates the 3’,5’-cyclic adenosine monophosphate signaling pathway. (PMID:29678281)
- Duplications of GPR101 gene are associated with X-linked acrogigantism and acromegaly; 924 G>C mutation is associated with sporadic acromegaly (PMID:30711029)
- findings demonstrate a fundamental role for GPR101 in mediating the leukocyte-directed actions of RvD5n-3 DPA. (PMID:31793912)
- GPR101 drives growth hormone hypersecretion and gigantism in mice via constitutive activation of Gs and Gq/11. (PMID:32958754)
- GPR101: Modeling a constitutively active receptor linked to X-linked acrogigantism. (PMID:38006624)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | gpr101 | ENSDARG00000039218 |
| mus_musculus | Gpr101 | ENSMUSG00000036357 |
| rattus_norvegicus | Gpr101 | ENSRNOG00000027658 |
| caenorhabditis_elegans | ser-5 | WBGENE00008890 |
Paralogs (18): ADRB1 (ENSG00000043591), ADRA1A (ENSG00000120907), DRD2 (ENSG00000149295), ADRA2A (ENSG00000150594), ADRB2 (ENSG00000169252), ADRA1B (ENSG00000170214), ADRA1D (ENSG00000171873), OR5T3 (ENSG00000172489), OR56A1 (ENSG00000180934), OR5T1 (ENSG00000181698), OR5T2 (ENSG00000181718), OR56A4 (ENSG00000183389), ADRA2C (ENSG00000184160), OR56A3 (ENSG00000184478), OR13F1 (ENSG00000186881), OR56A5 (ENSG00000188691), ADRB3 (ENSG00000188778), ADRA2B (ENSG00000274286)
Protein
Protein identifiers
Probable G-protein coupled receptor 101 — Q96P66 (reviewed: Q96P66)
All UniProt accessions (1): Q96P66
UniProt curated annotations — full annotation on UniProt →
Function. Orphan receptor.
Subcellular location. Cell membrane.
Disease relevance. Pituitary adenoma 2, growth hormone-secreting (PITA2) [MIM:300943] A form of pituitary adenoma, a neoplasm of the pituitary gland and one of the most common neuroendocrine tumors. Pituitary adenomas are clinically classified as functional and non-functional tumors, and manifest with a variety of features, including local invasion of surrounding structures and excessive hormone secretion. Functional pituitary adenomas are further classified by the type of hormone they secrete. PITA2 is a growth hormone-secreting benign neoplasm, also known as somatotropinoma. It clinically results in acromegaly, a condition characterized by coarse facial features, protruding jaw, and enlarged extremities. Excessive production of growth hormone in children or adolescents before the closure of epiphyses causes gigantism, a condition characterized by abnormally tall stature. The disease is caused by variants affecting the gene represented in this entry.
Similarity. Belongs to the G-protein coupled receptor 1 family.
RefSeq proteins (1): NP_473362* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000276 | GPCR_Rhodpsn | Family |
| IPR017452 | GPCR_Rhodpsn_7TM | Domain |
Pfam: PF00001
UniProt features (48 total): helix 12, topological domain 8, transmembrane region 7, strand 5, turn 4, compositionally biased region 3, sequence variant 3, region of interest 2, glycosylation site 2, chain 1, disulfide bond 1
Structure
Experimental structures (PDB)
3 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 8W8Q | ELECTRON MICROSCOPY | 2.89 |
| 8W8R | ELECTRON MICROSCOPY | 3.3 |
| 8W8S | ELECTRON MICROSCOPY | 3.3 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96P66-F1 | 69.45 | 0.27 |
Antibody-complex structures (SAbDab): 2 — 8W8Q, 8W8R
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Disulfide bonds (1): 104–182
Glycosylation sites (2): 7, 13
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 277 (showing top):
BENPORATH_ES_WITH_H3K27ME3, GOBP_POSITIVE_REGULATION_OF_MAPK_CASCADE, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, GOBP_ADENYLATE_CYCLASE_MODULATING_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY, GOBP_ADRENERGIC_RECEPTOR_SIGNALING_PATHWAY, GOBP_POSITIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION, TGGAAA_NFAT_Q4_01, LEIN_PONS_MARKERS, LEIN_MEDULLA_MARKERS, GOCC_RECEPTOR_COMPLEX, GOBP_ADENYLATE_CYCLASE_ACTIVATING_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY, GOMF_TRANSMEMBRANE_SIGNALING_RECEPTOR_ACTIVITY, GOMF_G_PROTEIN_COUPLED_RECEPTOR_ACTIVITY, MEISSNER_NPC_HCP_WITH_H3K4ME2, MIKKELSEN_MEF_HCP_WITH_H3_UNMETHYLATED
GO Biological Process (4): positive regulation of MAPK cascade (GO:0043410), adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880), signal transduction (GO:0007165), G protein-coupled receptor signaling pathway (GO:0007186)
GO Molecular Function (2): G protein-coupled receptor activity (GO:0004930), protein binding (GO:0005515)
GO Cellular Component (3): plasma membrane (GO:0005886), signaling receptor complex (GO:0043235), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| MAPK cascade | 1 |
| regulation of MAPK cascade | 1 |
| positive regulation of intracellular signal transduction | 1 |
| adenylate cyclase-activating G protein-coupled receptor signaling pathway | 1 |
| adrenergic receptor signaling pathway | 1 |
| cell communication | 1 |
| cellular process | 1 |
| signaling | 1 |
| regulation of cellular process | 1 |
| cellular response to stimulus | 1 |
| G protein-coupled receptor activity | 1 |
| signal transduction | 1 |
| transmembrane signaling receptor activity | 1 |
| G protein-coupled receptor signaling pathway | 1 |
| binding | 1 |
| membrane | 1 |
| cell periphery | 1 |
| protein-containing complex | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
748 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| GPR101 | AIP | O00170 | 684 |
| GPR101 | PRKAR1A | P10644 | 609 |
| GPR101 | MEN1 | O00255 | 580 |
| GPR101 | GNRH1 | P01148 | 523 |
| GPR101 | RBMX | P38159 | 522 |
| GPR101 | CDKN1B | P46527 | 521 |
| GPR101 | GHRH | P01286 | 519 |
| GPR101 | GNAS | Q5JWF2 | 511 |
| GPR101 | GPR26 | Q8NDV2 | 506 |
| GPR101 | USP8 | P40818 | 506 |
| GPR101 | GPR62 | Q9BZJ7 | 487 |
| GPR101 | PDE11A | Q9HCR9 | 479 |
| GPR101 | GPR27 | Q9NS67 | 474 |
| GPR101 | ARHGEF6 | Q15052 | 447 |
| GPR101 | RBMX2 | Q9Y388 | 447 |
| GPR101 | ASB12 | Q8WXK4 | 447 |
IntAct
63 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| AGPAT4 | GPR101 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LAT | GPR101 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TM4SF4 | GPR101 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CYB561A3 | GPR101 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ORMDL3 | GPR101 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GPR101 | AGPAT4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GPR101 | TMEM147 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GPR101 | NDUFB11 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GPR101 | UNC93B1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GPR101 | DERL3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SLC35E4 | GPR101 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CDIPT | GPR101 | psi-mi:“MI:0915”(physical association) | 0.560 |
| YIPF6 | GPR101 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MFSD5 | GPR101 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TMEM239 | GPR101 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SLC41A1 | GPR101 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GPR101 | SLC39A9 | psi-mi:“MI:0915”(physical association) | 0.560 |
| THSD7B | GPR101 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RTP2 | GPR101 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GPR101 | psi-mi:“MI:0915”(physical association) | 0.560 | |
| UNC93A | GPR101 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GPR101 | GPX8 | psi-mi:“MI:0915”(physical association) | 0.400 |
| GPR101 | LMNB2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| ORMDL3 | GPR101 | psi-mi:“MI:0915”(physical association) | 0.000 |
| TMEM147 | GPR101 | psi-mi:“MI:0915”(physical association) | 0.000 |
| NDUFB11 | GPR101 | psi-mi:“MI:0915”(physical association) | 0.000 |
| UNC93B1 | GPR101 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (26): GPR101 (Affinity Capture-MS), GPR101 (Affinity Capture-MS), GPR101 (Two-hybrid), GPR101 (Two-hybrid), GPR101 (Two-hybrid), GPR101 (Two-hybrid), GPR101 (Two-hybrid), GPR101 (Two-hybrid), GPR101 (Two-hybrid), GPR101 (Two-hybrid), GPR101 (Two-hybrid), GPR101 (Two-hybrid), GPR101 (Two-hybrid), GPR101 (Two-hybrid), GPR101 (Two-hybrid)
ESM2 similar proteins: A1A5S3, F5HDK1, F5HF62, O00421, O12000, O18982, O35457, P09703, P16849, P32229, P49217, P49219, P49288, P51046, P52380, P52381, P56412, P69332, P69333, Q01035, Q03613, Q08520, Q0II78, Q0VDU3, Q14330, Q18LE5, Q3T0E9, Q4R613, Q61184, Q66673, Q6P7G9, Q6SW98, Q75ZH0, Q7TSN5, Q83207, Q86917, Q89609, Q8BZR0, Q8K1Z6, Q8TDV0
Diamond homologs: B2RPY5, B3DM66, O02664, O02836, O35210, O42384, O77408, O77590, O77621, P08908, P16395, P19327, P21917, P22270, P25095, P25104, P29754, P30555, P30556, P32250, P34969, P34976, P43240, P49019, P49146, P49220, P79113, P97295, Q0EAB6, Q0GBZ5, Q24563, Q25321, Q25322, Q25414, Q2YDN1, Q58CW4, Q5IS62, Q64264, Q6XXX9, Q6XXY0
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
90 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 58 |
| Likely benign | 12 |
| Benign | 11 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 192259 | NM_054021.2(GPR101):c.1098C>A (p.Asp366Glu) | Pathogenic |
SpliceAI
163 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| X:137030482:G:C | donor_gain | 0.9900 |
| X:137030337:C:CC | acceptor_gain | 0.9500 |
| X:137030473:A:AC | donor_gain | 0.9500 |
| X:137030476:A:AC | donor_gain | 0.9400 |
| X:137030477:C:CC | donor_gain | 0.9400 |
| X:137030446:A:AC | donor_gain | 0.9100 |
| X:137030332:CAGCA:C | acceptor_gain | 0.8700 |
| X:137030534:G:GT | donor_gain | 0.8700 |
| X:137030335:CA:C | acceptor_gain | 0.8600 |
| X:137030481:AGCAG:A | donor_gain | 0.8600 |
| X:137030488:TTGC:T | donor_gain | 0.8600 |
| X:137030478:T:C | donor_gain | 0.8400 |
| X:137030454:G:C | donor_gain | 0.8300 |
| X:137030453:A:AC | donor_gain | 0.8200 |
| X:137030812:T:TA | donor_gain | 0.8000 |
| X:137030485:G:C | donor_gain | 0.7900 |
| X:137030586:A:AC | donor_gain | 0.7900 |
| X:137030587:C:CC | donor_gain | 0.7900 |
| X:137030896:CT:C | donor_gain | 0.7900 |
| X:137030895:A:AC | donor_gain | 0.7600 |
| X:137030896:C:CC | donor_gain | 0.7600 |
| X:137030334:GCA:G | acceptor_gain | 0.7500 |
| X:137030335:CAC:C | acceptor_gain | 0.7500 |
| X:137030336:ACTGC:A | acceptor_loss | 0.7300 |
| X:137030337:C:A | acceptor_loss | 0.7300 |
| X:137030338:T:C | acceptor_loss | 0.7300 |
| X:137030333:AGCA:A | acceptor_gain | 0.7200 |
| X:137030339:G:C | acceptor_loss | 0.7100 |
| X:137030808:T:TA | donor_gain | 0.6900 |
| X:137030492:A:AC | donor_gain | 0.6600 |
AlphaMissense
3390 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| X:137030354:A:G | W441R | 0.999 |
| X:137030354:A:T | W441R | 0.999 |
| X:137031186:G:C | S163R | 0.999 |
| X:137031186:G:T | S163R | 0.999 |
| X:137031188:T:G | S163R | 0.999 |
| X:137031209:A:G | W156R | 0.999 |
| X:137031209:A:T | W156R | 0.999 |
| X:137031117:C:A | W186C | 0.998 |
| X:137031117:C:G | W186C | 0.998 |
| X:137031129:G:C | C182W | 0.998 |
| X:137031130:C:G | C182S | 0.998 |
| X:137031131:A:T | C182S | 0.998 |
| X:137031289:C:G | R129P | 0.998 |
| X:137031321:G:C | S118R | 0.998 |
| X:137031321:G:T | S118R | 0.998 |
| X:137031323:T:G | S118R | 0.998 |
| X:137031363:G:C | C104W | 0.998 |
| X:137031364:C:T | C104Y | 0.998 |
| X:137031457:A:G | L73P | 0.998 |
| X:137031459:G:C | N72K | 0.998 |
| X:137031459:G:T | N72K | 0.998 |
| X:137030438:C:G | G413R | 0.997 |
| X:137030438:C:T | G413R | 0.997 |
| X:137031064:G:C | P204R | 0.997 |
| X:137031130:C:T | C182Y | 0.997 |
| X:137031131:A:G | C182R | 0.997 |
| X:137031199:G:T | A159D | 0.997 |
| X:137031348:G:C | S109R | 0.997 |
| X:137031348:G:T | S109R | 0.997 |
| X:137031350:T:G | S109R | 0.997 |
dbSNP variants (sampled 300 via entrez): RS1000455907 (X:137034933 G>A), RS1000716283 (X:137030074 G>A), RS1000826218 (X:137034324 A>G), RS1001543946 (X:137033286 C>T), RS1001971838 (X:137033668 C>T), RS1002662596 (X:137034129 G>C), RS1002786104 (X:137024120 A>C), RS1003573308 (X:137028599 CTG>C), RS1003626839 (X:137026805 A>C), RS1003645250 (X:137029212 G>C,T), RS1003835461 (X:137026148 T>C), RS1004477345 (X:137024855 G>C), RS1004578121 (X:137033310 G>A), RS1004613538 (X:137025211 A>C), RS1004712183 (X:137033640 G>T)
Disease associations
OMIM: gene MIM:300393 | disease phenotypes: MIM:300943, MIM:300942
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| pituitary adenoma, growth hormone-secreting, 2 | Strong | X-linked |
| acromegaly | Supportive | Unknown |
Mondo (3): pituitary adenoma, growth hormone-secreting, 2 (MONDO:0010492), X-linked acrogigantism due to Xq26 microduplication (MONDO:0010491), acromegaly (MONDO:0019933)
Orphanet (3): Acromegaly (Orphanet:963), X-linked acrogigantism (Orphanet:300373), OBSOLETE: X-linked acrogigantism due to Xq26 microduplication (Orphanet:448372)
HPO phenotypes
107 total (30 of 107 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000044 | Hypogonadotropic hypogonadism |
| HP:0000098 | Tall stature |
| HP:0000158 | Macroglossia |
| HP:0000164 | Abnormality of the dentition |
| HP:0000238 | Hydrocephalus |
| HP:0000276 | Long face |
| HP:0000280 | Coarse facial features |
| HP:0000293 | Full cheeks |
| HP:0000303 | Mandibular prognathia |
| HP:0000336 | Prominent supraorbital ridges |
| HP:0000337 | Broad forehead |
| HP:0000400 | Macrotia |
| HP:0000445 | Wide nose |
| HP:0000602 | Ophthalmoplegia |
| HP:0000664 | Synophrys |
| HP:0000687 | Widely spaced teeth |
| HP:0000689 | Dental malocclusion |
| HP:0000716 | Depression |
| HP:0000739 | Anxiety |
| HP:0000789 | Infertility |
| HP:0000802 | Impotence |
| HP:0000818 | Abnormality of the endocrine system |
| HP:0000819 | Diabetes mellitus |
| HP:0000822 | Hypertension |
| HP:0000830 | Anterior hypopituitarism |
| HP:0000845 | Elevated circulating growth hormone concentration |
| HP:0000846 | Adrenal insufficiency |
| HP:0000855 | Insulin resistance |
| HP:0000869 | Secondary amenorrhea |
| HP:0000870 | Increased circulating prolactin concentration |
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004904_214 | Body mass index | 1.000000e-08 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004340 | body mass index |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D000172 | Acromegaly | C05.116.132.082; C10.228.140.617.738.250.100; C19.700.355.179 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL4523906 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
GtoPdb / IUPHAR curated pharmacology
(IUPHAR/BPS Guide to Pharmacology — expert-curated)
Target class: gpcr — Class A Orphans with emerging pharmacology
CTD chemical–gene interactions
5 total (human), top 5 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Grape Seed Proanthocyanidins | affects cotreatment, increases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Catechin | affects cotreatment, increases expression | 1 |
| Aflatoxin B1 | decreases methylation | 1 |
ChEMBL screening assays
2 unique, capped per target: 2 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL4883394 | Binding | PRESTO-Tango GPCRome screening (GPR101) | Data for DCP probe UCSF924 |
Cellosaurus cell lines
1 cell lines: 1 spontaneously immortalized cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_KX19 | PathHunter CHO-K1 GPR101 beta-arrestin | Spontaneously immortalized cell line | Female |
Clinical trials (associated diseases)
185 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00068029 | PHASE4 | COMPLETED | Pegvisomant And Sandostatin LAR Combination Study |
| NCT00068042 | PHASE4 | COMPLETED | A Study To Compare The Efficacy And Safety Of Pegvisomant To That Of Sandostatin Lar Depot In Patients With Acromegaly |
| NCT00145405 | PHASE4 | COMPLETED | Comparable Effects of Lanreotide Autogel and Octreotide LAR on GH, IGF-I Levels and Patient Satisfaction |
| NCT00149188 | PHASE4 | COMPLETED | Somatuline Autogel: Acromegaly Self/Partner Injection Study |
| NCT00151437 | PHASE4 | COMPLETED | Canadian Pegvisomant Compassionate Study In Acromegalic Patients |
| NCT00171886 | PHASE4 | COMPLETED | Octreotide Efficacy and Safety in First-line Acromegalic Patients |
| NCT00216398 | PHASE4 | COMPLETED | Lanreotide Autogel in Patients With Acromegaly Previously Treated With Octreotide LAR |
| NCT00242541 | PHASE4 | TERMINATED | Study Assessing the Efficacy and Safety of Octreotide Acetate in Patients With Acromegaly, With Micro or Macroadenomas |
| NCT00376064 | PHASE4 | COMPLETED | Efficacy of Octreotide Acetate and Cabergoline in Patients With Acromegaly |
| NCT00461149 | PHASE4 | COMPLETED | Dose Escalation of Octreotide-LAR as First-Line Therapy in Resistant Acromegaly |
| NCT00521300 | PHASE4 | COMPLETED | Preoperative Octreotide Treatment of Acromegaly |
| NCT00552071 | PHASE4 | COMPLETED | Ultrasound Guided Octreotide LAR Injection in Acromegaly |
| NCT00552851 | PHASE4 | UNKNOWN | Changes of Left Ventricular Mass and Cardiac Function in Patients With Active Acromegaly During Treatment With the Growth Hormone Receptor Antagonist Pegvisomant |
| NCT00595140 | PHASE4 | COMPLETED | Acute Application of Pegvisomant and Octreotide in Acromegaly |
| NCT00627796 | PHASE4 | COMPLETED | Lanreotide Autogel-120 mg as First-Line Treatment of Acromegaly |
| NCT00642720 | PHASE4 | COMPLETED | Change in Quality of Life After Addition of Weekly 40 mg Pegvisomant/Placebo in Controlled Acromegalic Patients |
| NCT00701363 | PHASE4 | COMPLETED | Study to Assess the Efficacy of an Extended Injection Interval Schedule of Lanreotide Autogel in Acromegalic Subjects |
| NCT01278342 | PHASE4 | COMPLETED | Study to Evaluate the Efficacy and Safety of Sandostatin LAR at High Dose or in Combination Either With GH-receptor Antagonist or Dopamine-agonist in Acromegalic Patients |
| NCT01424241 | PHASE4 | COMPLETED | Effects of Sandostatin LAR® in Acromegaly |
| NCT01618513 | PHASE4 | COMPLETED | Treatment of Acromegaly With Somatostatin Analogs: GH vs. IGF-I as Primary Biochemical Target |
| NCT01794793 | PHASE4 | COMPLETED | Study to Allow Access to Pasireotide for Patients Benefiting From Pasireotide Treatment in Novartis-sponsored Studies |
| NCT01861717 | PHASE4 | TERMINATED | A Pilot Study of Pre- and Post-operative Use of Somatuline Depot. |
| NCT02060383 | PHASE4 | COMPLETED | Study of Management of Pasireotide-induced Hyperglycemia in Adult Patients With Cushing’s Disease or Acromegaly |
| NCT02427295 | PHASE4 | UNKNOWN | Hormonal Outcomes in Acromegalic Patients With Treated Surgery With or Without Long Acting Somatostatin Analogues |
| NCT02668172 | PHASE4 | UNKNOWN | Pasireotide LAR and Pegvisomant Study in Acromegaly |
| NCT00128232 | PHASE3 | COMPLETED | Safety and Efficacy of Octreotide Long Acting Release (LAR) in Treatment Naïve Acromegalic Patients |
| NCT00143416 | PHASE3 | COMPLETED | Long Term Study With B2036-PEG |
| NCT00210457 | PHASE3 | COMPLETED | Efficacy and Safety of Lanreotide Autogel (60, 90 or 120 mg) in Acromegalic Patients |
| NCT00225979 | PHASE3 | COMPLETED | Safety and Efficacy of Long-acting Repeatable Octreotide Acetate for Injectable Suspension vs. Surgery in Treatment-naïve Patients With Acromegaly |
| NCT00372697 | PHASE3 | COMPLETED | Efficacy/Safety of Octreotide Acetate in Patients With Uncontrolled Acromegaly |
| NCT00383708 | PHASE3 | COMPLETED | Lanreotide Autogel and Pegvisomant Combination Therapy in Acromegalic Patients |
| NCT00444873 | PHASE3 | COMPLETED | Effect of 120mg Somatuline Autogel at Different Dose Intervals (28, 42 or 56 Days) in Patients With Acromegaly |
| NCT00447499 | PHASE3 | COMPLETED | Assessment of the Ability of Subjects With Acromegaly or Their Partners to Administer Somatuline Autogel |
| NCT00499993 | PHASE3 | COMPLETED | Efficacy and Tolerability of Lanreotide (Autogel 120 mg) in Patients With Acromegaly |
| NCT00600886 | PHASE3 | COMPLETED | Safety and Efficacy of Pasireotide Long Acting Release (LAR) vs. Octreotide LAR in Patients With Active Acromegaly |
| NCT00616551 | PHASE3 | COMPLETED | Efficacy and Safety of C2L-OCT-01 PR in Acromegalic Patients |
| NCT00635765 | PHASE3 | COMPLETED | Open Label Extension Study Evaluating Safety and Biological Activity of C2L-OCT-01 PR in Acromegalic Patients |
| NCT00642421 | PHASE3 | TERMINATED | Safety and Biological Activity of C2L-OCT-01 PR in Acromegalic Patients |
| NCT00690898 | PHASE3 | COMPLETED | Lanreotide as Primary Treatment for Acromegalic Patients With Pituitary Gland Macroadenoma |
| NCT00765323 | PHASE3 | TERMINATED | Efficacy and Safety Study of Octreotide Implant in Patients With Acromegaly |
Related Atlas pages
- Associated diseases: pituitary adenoma, growth hormone-secreting, 2, acromegaly
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): acromegaly, pituitary adenoma, growth hormone-secreting, 2, X-linked acrogigantism due to Xq26 microduplication